Varaico: Literature-Extracted Genetic Variants

THBS4

138 papers

RefSeq Summary

The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This ...

Pfam Domains

COMPaa 127–171UCSCCartilage oligomeric matrix protein

EGFaa 333–367UCSCEGF-like domain

TSP_3aa 405–440UCSCThrombospondin type 3 repeat

TSP_3aa 464–499UCSCThrombospondin type 3 repeat

TSP_3aa 499–522UCSCThrombospondin type 3 repeat

TSP_3aa 523–560UCSCThrombospondin type 3 repeat

Gene Aliases

HGNC Name

thrombospondin 4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 95 variants

42 papers

NM_003248.6

p.A387P

c.1159G>C

5 papers

NM_003248.6

p.A420V

c.1259C>T

3 papers

NM_003248.6

p.G122R

c.364G>A

3 papers

NM_003248.6

p.G122R

c.364G>C

2 papers

NM_003248.6

p.L194V

c.580C>G

2 papers

NM_003248.6

p.R591W

c.1771C>T

2 papers

NM_003248.6

p.R882C

c.2644C>T

2 papers

NM_003248.6

p.Q954H

c.2862G>C

2 papers

NM_003248.6

p.Q954H

c.2862G>T

1 paper

NM_003248.6

p.L16L

c.46C>T

1 paper

NM_003248.6

p.F31Y

c.92T>A

1 paper

NM_003248.6

p.P35S

c.103C>T